×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1677170006
Gene:
Linked Data
dbSNP Id:
rs1166538458
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668692_160668694del , CM000668.2:g.160668692_160668694del
GRCh38
NC_000006.11:g.161089724_161089726del , CM000668.1:g.161089724_161089726del
GRCh37
NC_000006.10:g.161009714_161009716del
NCBI36
NG_016147.1:g.2691_2693del
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2312_115-2310del
Search 100 bp 5'
Search 100 bp 3'